Varaico: Literature-Extracted Genetic Variants

Gene:KIAA0319
Variant:p.L113P
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KIAA0319

NM_014809.4:p.L113P

Associated Papers

Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

De Bock M et al.

Frontiers in Pharmacology, 2013

Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?

Larner AJ

Epilepsy & Behavior : E&b, 2011

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Larner AJ et al.

Journal of Neurology, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."